KEGG   DISEASE: H00715Help
Entry
H00715                      Disease                                

Name
Darier disease;
Dyskeratosis follicularis
Description
Darier disease is an autosomal dominant skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
Calcium signaling pathway
Gene
ATP2A2 [HSA:488] [KO:K05853]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21167218 (description, gene)
  Authors
Savignac M, Edir A, Simon M, Hovnanian A
  Title
Darier disease : a disease model of impaired calcium homeostasis in the skin.
  Journal
Biochim Biophys Acta 1813:1111-7 (2011)
Reference
PMID:15649206 (description)
  Authors
Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR
  Title
Dyskeratosis follicularis disease: case reports and review of the literature.
  Journal
J Eur Acad Dermatol Venereol 19:114-7 (2005)
Reference
PMID:15468148 (description)
  Authors
Foggia L, Hovnanian A
  Title
Calcium pump disorders of the skin.
  Journal
Am J Med Genet C Semin Med Genet 131C:20-31 (2004)

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